摘要
应用多重等位基因特异PCR方法检测分析了30个苯丙酮尿症家系的5种苯丙氨酸羟化酶基因点突变:外显子7(Arg243Gln),外显子12(Arg413Pro),外显子3(Arg111Term),外显于11(Tyr356Term)和外显子6(Tyr204Cys).结果表明,这五种突变占PKU基因的46.6%,其中最常见的突变为前两种,分别占23.3%和10.0%。完成了1例PKU风险胎儿的产前诊断。
The five known mutant alleles of the phenylalanine hydroxylase(PAH)gene were analyzed in 30 phenylketonuria(PKU)families from north China by multiplex allele-specific PCR(MASPCR).The results showed that these five point mutations accounted for 46.6% of all PKU genes.The two most frequent mutations were Arg243Gln and Arg413Pro.Their frequencies were 23.3% and 10.0% respectively.One prenatal gene diagnosis was performed.The mutations were identified in both parents,the fetus was a heterozygote carrying Arg243Gln.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1995年第6期321-324,I021,共5页
Chinese Journal of Medical Genetics
基金
北京市卫生局青年科学基金
中华医学基金
关键词
苯丙酮尿症
突变基因
胎前诊断
Phenylketonuria Mutant gene Prenatal diagnosis Polymerase chain reaction